R42S (p.Arg42Ser) variant of KRT6B (Keratin, type II cytoskeletal 6B)
R42S (p.Arg42Ser) in KRT6B (Keratin, type II cytoskeletal 6B) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
R42S (p.Arg42Ser) variant details
- p.Arg42Ser
- NCI-TCGA Cosmic COSV9936
- Variant assessed as somatic; moderate impact.
- Missense
- Variant Prioritization Score for Impact Estimate 0.174
- REVEL 0.09
- CADD 13.20
- PolyPhen-2 0.01
- SIFT 1.00
- UniProt: Variant assessed as somatic; moderate impact.
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available